Human leukocyte antigen super-locus: nexus of genomic supergenes, SNPs, indels, transcripts, and haplotypes

Abstract

Immunity: Crucial cell surface proteins New genetic sequencing and bioinformatic analysis techniques are improving our understanding of the human major histocompatibility complex (MHC), a large and complicated group of genes that encode cell surface proteins crucial to the human immune system. In a review, Jerzy Kulski and co-workers at the Tokai University School of Medicine in Isehara, Japan report that new sequencing technologies have now allowed researchers to map fine-scale and large-scale differences between different subgroups of genes within the MHC that are inherited together, called haplotypes. Study of haplotypes has illuminated the relatedness and evolutionary history of various human ethnic groups. Large-scale bioinformatic studies have revealed associations between MHC genes and disease. These advances will potentially provide better diagnosis or treatment for many diseases, both infectious and autoimmune, and may help improve transplant donor selection.